Canonical Allele Identifier: CA2695218737
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51944116_51944123dup , CM000675.2:g.51944116_51944123dup GRCh38
NC_000013.10:g.52518252_52518259dup , CM000675.1:g.52518252_52518259dup GRCh37
NC_000013.9:g.51416253_51416260dup NCBI36
NG_008806.1:g.72372_72379dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*894-1569_*894-1562dup ENSP00000489512.2:n.*894-1569_*894-1562dup
ENST00000673864.2:c.*1973_*1980dup ENSP00000501045.2:n.*1973_*1980dup
ENST00000674147.2:c.2608_2615dup ENSP00000500964.2:p.Cys872Ter
ENST00000242839.10:c.3229_3236dup MANE Select ENSP00000242839.5:p.Cys1079Ter
ENST00000344297.9:c.2608_2615dup ENSP00000342559.5:p.Cys872Ter
ENST00000400366.6:c.2896_2903dup ENSP00000383217.3:p.Cys968Ter
ENST00000448424.7:c.2977_2984dup ENSP00000416738.3:p.Cys995Ter
ENST00000673772.1:c.2995_3002dup ENSP00000501168.1:p.Cys1001Ter
ENST00000673867.1:n.3368_3375dup
ENST00000674126.1:n.3592_3599dup
ENST00000674147.1:c.2164_2171dup ENSP00000500964.1:p.Cys724Ter
ENST00000242839.8:c.3229_3236dup ENSP00000242839.4:p.Cys1079Ter
ENST00000344297.8:c.2608_2615dup ENSP00000342559.5:p.Cys872Ter
ENST00000400366.5:c.2896_2903dup ENSP00000383217.3:p.Cys968Ter
ENST00000400370.8:c.1939_1946dup ENSP00000383221.3:p.Cys649Ter
ENST00000418097.7:c.3034_3041dup ENSP00000393343.2:p.Cys1014Ter
ENST00000448424.6:c.2995_3002dup ENSP00000416738.2:p.Cys1001Ter
ENST00000466629.1:n.449_456dup
ENST00000634296.1:c.1022-1569_1022-1562dup
ENST00000634308.1:c.*330_*337dup ENSP00000489234.1:n.*330_*337dup
ENST00000634620.1:n.3973_3980dup
ENST00000634810.1:n.2574_2581dup
ENST00000634844.1:c.3085_3092dup ENSP00000489398.1:p.Cys1031Ter
NM_000053.3:c.3229_3236dup NP_000044.2:p.Cys1079Ter
NM_001005918.2:c.2608_2615dup NP_001005918.1:p.Cys872Ter
NM_001243182.1:c.2896_2903dup NP_001230111.1:p.Cys968Ter
XM_005266423.2:c.3133_3140dup XP_005266480.1:p.Cys1047Ter
XM_005266424.3:c.3133_3140dup XP_005266481.1:p.Cys1047Ter
XM_005266427.2:c.2995_3002dup XP_005266484.1:p.Cys1001Ter
XM_005266428.1:c.2977_2984dup XP_005266485.1:p.Cys995Ter
XM_005266430.3:c.3229_3236dup XP_005266487.1:p.Cys1079Ter
XM_005266431.2:c.3193_3200dup XP_005266488.1:p.Cys1067Ter
XM_005266432.2:c.2743_2750dup XP_005266489.1:p.Cys917Ter
XM_006719837.2:c.3133_3140dup XP_006719900.1:p.Cys1047Ter
XM_006719838.1:c.1045_1052dup XP_006719901.1:p.Cys351Ter
XM_006719839.1:c.877-1569_877-1562dup XP_006719902.1:n.877-1569_877-1562dup
XM_011535117.1:c.3133_3140dup XP_011533419.1:p.Cys1047Ter
XM_011535118.1:c.3094_3101dup XP_011533420.1:p.Cys1034Ter
XM_011535119.1:c.3061-1569_3061-1562dup XP_011533421.1:n.3061-1569_3061-1562dup
XM_011535120.1:c.2815_2822dup XP_011533422.1:p.Cys941Ter
XM_011535121.1:c.2731-1569_2731-1562dup XP_011533423.1:n.2731-1569_2731-1562dup
XM_011535122.1:c.1897_1904dup XP_011533424.1:p.Cys635Ter
XR_941601.1:n.3448_3455dup
XR_941602.1:n.3448_3455dup
XR_941603.1:n.3448_3455dup
XR_941604.1:n.3448_3455dup
NM_001330578.1:c.2995_3002dup NP_001317507.1:p.Cys1001Ter
NM_001330579.1:c.2977_2984dup NP_001317508.1:p.Cys995Ter
XM_005266424.4:c.3133_3140dup XP_005266481.1:p.Cys1047Ter
XM_005266430.4:c.3229_3236dup XP_005266487.1:p.Cys1079Ter
XM_005266431.4:c.3193_3200dup XP_005266488.1:p.Cys1067Ter
XM_006719837.3:c.3133_3140dup XP_006719900.1:p.Cys1047Ter
XM_011535117.3:c.3133_3140dup XP_011533419.1:p.Cys1047Ter
XM_017020627.1:c.3133_3140dup XP_016876116.1:p.Cys1047Ter
NM_000053.4:c.3229_3236dup MANE Select NP_000044.2:p.Cys1079Ter
NM_001005918.3:c.2608_2615dup NP_001005918.1:p.Cys872Ter
NM_001330579.2:c.2977_2984dup NP_001317508.1:p.Cys995Ter
NM_001243182.2:c.2896_2903dup NP_001230111.1:p.Cys968Ter
NM_001330578.2:c.2995_3002dup NP_001317507.1:p.Cys1001Ter